Incidental Mutation 'IGL02534:Smc5'
ID 297444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smc5
Ensembl Gene ENSMUSG00000024943
Gene Name structural maintenance of chromosomes 5
Synonyms Smc5l1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02534
Quality Score
Status
Chromosome 19
Chromosomal Location 23183815-23251261 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 23205536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087556] [ENSMUST00000223934] [ENSMUST00000226111]
AlphaFold Q8CG46
Predicted Effect probably null
Transcript: ENSMUST00000087556
SMART Domains Protein: ENSMUSP00000084837
Gene: ENSMUSG00000024943

DomainStartEndE-ValueType
Pfam:SMC_N 52 1057 9.2e-19 PFAM
Pfam:AAA_23 55 456 1.2e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000223934
Predicted Effect probably null
Transcript: ENSMUST00000226111
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous knockout in embryonic stem cells causes abnormal mitosis, increased apoptosis and a shift from pluripotency to differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 C T 13: 95,506,030 (GRCm39) E186K possibly damaging Het
Ajm1 G T 2: 25,467,043 (GRCm39) S956* probably null Het
Anks1b A G 10: 90,730,979 (GRCm39) I932V probably benign Het
Atg2b A G 12: 105,609,526 (GRCm39) Y1361H probably damaging Het
Bcl9 G T 3: 97,122,545 (GRCm39) L85M probably damaging Het
Bcl9l T G 9: 44,417,036 (GRCm39) S291R probably benign Het
Cpa2 T A 6: 30,550,767 (GRCm39) D201E probably benign Het
Efna5 A T 17: 62,920,384 (GRCm39) C164* probably null Het
Fhip2b A T 14: 70,823,128 (GRCm39) H642Q probably damaging Het
Fhip2b T A 14: 70,823,630 (GRCm39) H580L probably benign Het
Gm6316 A G 12: 69,967,763 (GRCm39) probably benign Het
Gucy2g A G 19: 55,229,500 (GRCm39) S57P probably damaging Het
Inf2 C A 12: 112,576,930 (GRCm39) A968E unknown Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Mcm5 T A 8: 75,840,861 (GRCm39) V222E probably damaging Het
Muc5b A G 7: 141,398,456 (GRCm39) Y287C unknown Het
Or12e9 T G 2: 87,202,598 (GRCm39) S241A probably benign Het
Or13a24 A T 7: 140,154,554 (GRCm39) M163L probably benign Het
Or14c39 G A 7: 86,343,939 (GRCm39) V92M probably benign Het
Or8u10 A G 2: 85,915,713 (GRCm39) M136T probably damaging Het
Pabpc1l A G 2: 163,869,410 (GRCm39) D70G probably damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Ppp1r17 C A 6: 56,003,445 (GRCm39) S86* probably null Het
Rasd1 A G 11: 59,855,615 (GRCm39) M6T possibly damaging Het
Rsph14 C A 10: 74,793,466 (GRCm39) V345F probably damaging Het
Slc11a2 T A 15: 100,299,207 (GRCm39) Q121L probably benign Het
Tanc2 T C 11: 105,725,994 (GRCm39) L386P probably damaging Het
Tmem9b A T 7: 109,336,164 (GRCm39) L160Q probably damaging Het
Trim32 A G 4: 65,532,906 (GRCm39) T488A possibly damaging Het
Tubb1 A G 2: 174,297,462 (GRCm39) I24V probably benign Het
Upf1 A T 8: 70,788,302 (GRCm39) probably null Het
Zfp263 T A 16: 3,564,279 (GRCm39) probably benign Het
Other mutations in Smc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Smc5 APN 19 23,213,329 (GRCm39) missense probably damaging 1.00
IGL01070:Smc5 APN 19 23,208,965 (GRCm39) missense possibly damaging 0.86
IGL01315:Smc5 APN 19 23,208,968 (GRCm39) missense probably benign
IGL01879:Smc5 APN 19 23,205,548 (GRCm39) missense probably damaging 0.97
IGL01902:Smc5 APN 19 23,237,132 (GRCm39) missense possibly damaging 0.85
IGL02016:Smc5 APN 19 23,251,076 (GRCm39) missense probably benign 0.00
IGL02186:Smc5 APN 19 23,209,223 (GRCm39) missense probably damaging 1.00
IGL02383:Smc5 APN 19 23,191,996 (GRCm39) splice site probably benign
IGL02447:Smc5 APN 19 23,234,856 (GRCm39) missense probably benign 0.01
IGL02834:Smc5 APN 19 23,234,968 (GRCm39) missense probably benign 0.30
IGL03290:Smc5 APN 19 23,251,022 (GRCm39) missense probably benign 0.19
R0722:Smc5 UTSW 19 23,186,291 (GRCm39) missense probably damaging 0.99
R0893:Smc5 UTSW 19 23,241,017 (GRCm39) missense possibly damaging 0.67
R0970:Smc5 UTSW 19 23,216,362 (GRCm39) missense probably damaging 1.00
R1281:Smc5 UTSW 19 23,213,247 (GRCm39) missense probably benign
R1368:Smc5 UTSW 19 23,187,807 (GRCm39) missense probably damaging 1.00
R2092:Smc5 UTSW 19 23,216,263 (GRCm39) missense probably benign
R3721:Smc5 UTSW 19 23,187,856 (GRCm39) missense probably benign 0.21
R4382:Smc5 UTSW 19 23,246,210 (GRCm39) missense probably benign 0.39
R4735:Smc5 UTSW 19 23,220,069 (GRCm39) missense probably benign
R4936:Smc5 UTSW 19 23,211,367 (GRCm39) missense probably damaging 1.00
R5306:Smc5 UTSW 19 23,237,009 (GRCm39) critical splice donor site probably null
R5754:Smc5 UTSW 19 23,221,467 (GRCm39) missense possibly damaging 0.92
R6175:Smc5 UTSW 19 23,191,534 (GRCm39) missense possibly damaging 0.60
R6313:Smc5 UTSW 19 23,186,312 (GRCm39) nonsense probably null
R6527:Smc5 UTSW 19 23,205,554 (GRCm39) missense probably benign 0.00
R6611:Smc5 UTSW 19 23,206,283 (GRCm39) missense probably benign 0.13
R6750:Smc5 UTSW 19 23,220,004 (GRCm39) missense probably damaging 1.00
R6801:Smc5 UTSW 19 23,192,010 (GRCm39) missense probably benign 0.34
R6821:Smc5 UTSW 19 23,220,151 (GRCm39) missense probably benign 0.20
R7002:Smc5 UTSW 19 23,209,247 (GRCm39) missense probably benign 0.00
R7198:Smc5 UTSW 19 23,237,064 (GRCm39) nonsense probably null
R7386:Smc5 UTSW 19 23,192,539 (GRCm39) missense possibly damaging 0.59
R7439:Smc5 UTSW 19 23,220,064 (GRCm39) missense probably damaging 0.97
R7596:Smc5 UTSW 19 23,191,533 (GRCm39) missense probably damaging 0.99
R7666:Smc5 UTSW 19 23,206,381 (GRCm39) missense probably benign 0.15
R7760:Smc5 UTSW 19 23,213,254 (GRCm39) missense probably benign 0.01
R7990:Smc5 UTSW 19 23,213,246 (GRCm39) missense probably benign 0.01
R8255:Smc5 UTSW 19 23,186,290 (GRCm39) missense
R8359:Smc5 UTSW 19 23,211,443 (GRCm39) missense possibly damaging 0.49
R8473:Smc5 UTSW 19 23,221,446 (GRCm39) missense probably benign 0.02
R8711:Smc5 UTSW 19 23,243,058 (GRCm39) missense probably damaging 0.98
R8815:Smc5 UTSW 19 23,221,422 (GRCm39) missense probably damaging 1.00
R8885:Smc5 UTSW 19 23,191,234 (GRCm39) missense probably damaging 0.99
R8940:Smc5 UTSW 19 23,237,126 (GRCm39) missense probably benign 0.00
R9642:Smc5 UTSW 19 23,238,752 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16